A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659884



Internal ID9579303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100601193..100605399hg38UCSC Ensembl
Outerchr7:100600622..100605969hg38UCSC Ensembl
Innerchr7:100198816..100203022hg19UCSC Ensembl
Outerchr7:100198245..100203592hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385348
hg195348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6265461, essv5676254, essv6223597, essv5951759, essv5871176, essv6381679, essv6038580, essv5613458, essv6335004, essv5453986, essv6508750, essv5931908, essv5800162, essv6361470, essv6286853, essv6077644, essv5920134, essv5596433, essv5838269, essv6033356, essv6343512, essv5751403, essv5626475, essv6594204, essv6444948, essv6412178, essv5547384, essv6296766, essv5912224, essv6158776, essv5763653, essv6318273, essv5884447, essv5545303, essv6237290, essv5594346, essv6237415, essv5401659, essv6092985, essv6127372, essv5637811, essv5969780, essv6344754, essv5594440, essv6407257, essv6095338, essv6549674, essv6494451, essv5531024, essv5409554, essv6561997, essv5919061, essv5427747, essv6437767, essv5892397, essv5453111, essv6043505, essv5650014, essv6508733, essv5759860, essv6051924, essv6583208, essv5582508, essv5962107, essv5762160, essv6385538, essv5935840, essv6145131, essv6316803, essv6181811, essv5739776, essv6553665, essv6281510, essv6488712, essv5629873, essv5490300, essv6153474, essv6154861, essv5562104, essv5911977, essv5851145, essv6118992, essv5480022, essv6558077, essv5920259, essv5569018, essv5888984, essv5927013, essv6382191, essv5543134, essv6354984, essv5785089, essv6078202
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, NA19700, HG01356, NA19703, HG00536, HG01462, HG00671, HG01359, HG00524, NA19914, NA19704, HG01389, HG01374, HG00699, NA19819, HG00449, HG01461, HG01140, HG00663, HG00589, HG00501, HG01488, HG00702, HG00448, NA19916, HG01492, HG00610, HG00537, HG00590, HG01134, HG00512, HG00422, HG00705, HG01440, HG00427, NA19901, HG00530, HG00419, NA19921, HG00543, HG01136, HG00560, HG00629, HG00443, NA19707, HG00596, HG01384, HG00557, HG00428, HG00475, HG00436, HG00556, HG00583, HG01498, HG00619, HG00651, HG00404, HG00531, HG00479, HG00684, HG00525, HG00463, HG00611, HG00476, NA19834, HG00625, HG00580, HG01357, HG01375, NA19835, HG00473, HG00662, HG00418, HG01489, HG01342, HG00620, NA19818, HG00707, HG00513, HG00578, HG00478, HG01491, HG00421, NA19713, NA19711, HG01377, HG00472, HG00628, HG00437
Known GenesFBXO24, PCOLCE, PCOLCE-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659884
Frequency
Sample Size1151
Observed Gain0
Observed Loss93
Observed Complex0
Frequencyn/a


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