A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676743



Internal ID9596162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1085081..1090887hg38UCSC Ensembl
chr12:1194247..1200053hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385807
hg195807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5596969, essv5665478, essv6569622, essv6176466, essv6116417, essv5448767, essv6548090, essv5886630, essv6107606, essv5444237, essv6046068, essv5647649, essv5763492, essv6517894, essv6331363, essv5677160, essv6168281, essv6457097, essv5582089, essv6373801, essv6266863, essv5421550, essv5663101, essv6592589, essv5810702, essv5866820, essv5615390, essv6266673, essv6147139, essv5440525, essv5408898, essv5519278, essv6232490, essv5626372, essv6594674, essv6291042, essv5724952, essv5401169, essv6013685, essv5636404, essv6506515, essv6377483, essv5637959, essv5773451, essv6299090, essv5436346, essv5544647, essv6445739, essv5481121, essv6106949, essv6567756, essv6322104, essv6108368, essv6591094, essv5472342, essv5855057, essv6552865, essv6460464, essv5504480, essv6224697, essv5912286, essv5501356, essv5489286, essv5938983, essv6046863, essv5792671, essv5753160, essv6363709, essv6138813, essv6091789, essv6570906, essv5440550, essv6234854, essv5879217, essv6230698, essv6563820, essv5545440, essv6105352, essv6077544, essv5537560, essv6423182, essv6418670, essv5873637, essv5891624, essv5673021, essv6372623, essv6020939, essv6158894, essv5848630, essv5550868, essv5716233, essv5831886, essv5728495, essv5938778, essv5855719, essv6248471, essv6457378, essv5761406, essv6009345, essv6547499, essv5445859, essv5630259, essv5474669, essv6544400, essv6021681, essv6205865, essv5733501, essv5969278, essv5843976, essv5518517, essv6521668, essv6375776, essv5936777, essv5526296, essv6104580, essv6593917
SamplesHG00403, NA19394, HG00114, HG01173, HG00608, HG00142, NA20766, HG00249, NA19664, HG01359, NA12273, NA18565, HG00100, HG00257, NA20816, NA20512, HG00244, HG01465, NA12340, HG00654, HG01051, NA12399, HG01140, HG00337, HG00327, HG01350, HG00272, HG00122, NA20586, HG00173, HG00736, HG00247, HG00369, NA19681, HG00281, HG00139, HG01069, HG00335, HG00106, NA06984, HG00262, HG00422, HG00427, HG00338, NA18557, HG01048, HG00178, NA20533, HG00323, NA19921, HG00108, HG01124, HG00543, HG00137, HG01183, HG01136, HG00176, HG01171, HG00282, HG01384, HG00328, NA12342, HG00657, NA19717, HG00584, HG00583, HG00275, HG00740, HG00651, HG01197, HG00331, HG00684, HG00140, HG01334, HG00276, NA18963, HG00141, NA18634, HG01107, HG01075, HG00258, HG00254, HG01190, NA12272, HG00734, HG00136, HG00278, HG01357, HG01174, NA19835, NA20778, HG00607, HG00237, HG00256, NA12347, HG00339, HG00269, HG00707, HG00672, HG00111, HG00259, HG00421, HG00329, HG00342, HG00267, NA19713, HG00310, HG00131, HG00343, HG00377, HG00372, HG00595, HG01082, HG01191, HG00553, NA20772
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676743
Frequency
Sample Size1151
Observed Gain0
Observed Loss116
Observed Complex0
Frequencyn/a


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