A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672664



Internal ID9938769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:40096363..40101169hg38UCSC Ensembl
OuterchrX:40095992..40101539hg38UCSC Ensembl
InnerchrX:39955616..39960422hg19UCSC Ensembl
OuterchrX:39955245..39960792hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg385548
hg195548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6423128, essv6269296, essv6516966, essv6454674, essv5478313, essv5899422, essv6172672, essv6450788, essv5512843, essv6375520, essv5859713, essv5417128, essv5737508, essv5569905, essv6434412, essv6417820, essv6025822, essv5462624, essv6476302, essv6376893, essv5735855, essv6152905, essv5576020, essv6276264, essv5764688, essv5422493, essv5720392, essv5738729, essv5702326, essv5966613, essv6501209, essv5951343, essv6387101, essv5452080, essv5628553, essv6065724, essv5533150, essv6336857, essv5592231, essv6303437, essv6276941, essv5747818, essv5611520, essv6558306, essv5688673, essv5463665, essv5403491, essv6231138, essv6257468, essv6209987, essv6495727, essv5789213, essv5938993, essv5649159, essv6303606, essv5840812, essv5838176, essv6543936, essv6113014, essv5683834, essv5722264, essv5629580, essv5468451, essv5654529, essv5827300, essv5669247, essv6113018, essv6202645, essv6068964, essv5875984, essv6378676, essv5404421, essv6190350, essv5740316, essv6378634, essv6163912, essv5860140, essv6245884, essv6490674, essv6023523, essv6412814, essv6158903, essv5537070, essv5456870, essv6267153, essv6486386, essv5423300, essv6590908, essv5856009, essv5556015, essv5620294, essv6550547
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG00699, HG00566, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00565, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesBCOR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672664
Frequency
Sample Size1151
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer