A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671971



Internal ID9591390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152348808..152349135hg38UCSC Ensembl
chr2:153205322..153205649hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6392474, essv5890475, essv5821863, essv5472807, essv5824969, essv6120136, essv5848615, essv6054572, essv5549274, essv5782068, essv5833722, essv5648480, essv6415664, essv6191449, essv6474947, essv5759962, essv6129408, essv5582871, essv5601295, essv5660856, essv5617777, essv5600852, essv5637169, essv6496857, essv6168077, essv5731612, essv5631057, essv5434201, essv6557306, essv6417723, essv6077244, essv6546278, essv6032530, essv6035834, essv6002027, essv6304621, essv6100053, essv6186193, essv5815087, essv5665969, essv6105975, essv5692399, essv6074654, essv6314847, essv6171475, essv6494268, essv6078942, essv6230548, essv6560131, essv6210293, essv6359682, essv6112419, essv6533138, essv5632812, essv6092353, essv6017239, essv5403851, essv6294423, essv6065421, essv5687809, essv6464062, essv6008179, essv6076789, essv5469711, essv5428118, essv6034086, essv5768331, essv5682627, essv6469366, essv6013712, essv6403162, essv5447287, essv5607592, essv6197637, essv6253382, essv5914917, essv6365003, essv5869396, essv6268621
SamplesHG01441, HG00309, NA19312, NA12489, NA19445, NA18520, NA18871, NA18933, NA18523, NA12347, NA18501, NA19311, NA19060, NA18511, NA18545, NA19334, NA19453, NA18517, HG00542, HG01491, NA18542, HG01350, HG00739, NA19379, NA18507, HG01204, NA19108, HG00353, HG00543, HG01107, HG00556, HG00472, HG00337, NA19396, NA19398, HG00149, HG00125, HG01113, NA18593, NA20341, NA19377, NA19395, HG00108, NA18572, NA19373, NA18486, NA18986, HG00263, NA18941, NA18942, HG01080, HG01351, NA19909, NA20582, HG00329, NA19382, NA12890, HG00427, NA18909, NA12749, NA19394, NA20289, NA19719, NA20287, NA19818, NA20507, NA20513, NA18917, HG01366, NA18924, HG00708, HG01125, NA19130, HG00137, NA19381, HG01110, NA20519, HG01067, HG00361
Known GenesFMNL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671971
Frequency
Sample Size1151
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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