A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668322



Internal ID9587741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:16782193..16787599hg38UCSC Ensembl
OuterchrX:16781822..16787969hg38UCSC Ensembl
InnerchrX:16800316..16805722hg19UCSC Ensembl
OuterchrX:16799945..16806092hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg386148
hg196148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6132691, essv5968899, essv6432121, essv6033702, essv6042160, essv5697528, essv6541983, essv5781280, essv5692237, essv6320245, essv6483750, essv5860551, essv5469101, essv5932857, essv6538420, essv5695973, essv5449955, essv5435778, essv5916897, essv6409024, essv5795426, essv5704920, essv5872048, essv6192803, essv6569194, essv6052544, essv6060674, essv5875815, essv6178373, essv6244327, essv5858545, essv6526488, essv5659796, essv5584076, essv5426693, essv5979899, essv6424285, essv6139619, essv5532367, essv5498866, essv6408644, essv6593950, essv5513469, essv5437865, essv5873293, essv6464813, essv6308006, essv5747414, essv6539952, essv5787744, essv6041579, essv6531825, essv6484062, essv6210863, essv5518175, essv5637879, essv5723440, essv6063456, essv6507773, essv5585408, essv5894246, essv6209848, essv6428189, essv5993294, essv6402717, essv6586862, essv6467900, essv6537536, essv6122631, essv6426947
SamplesHG00613, HG00537, HG00536, HG00607, HG00619, HG00418, HG00500, HG00464, HG00596, HG00565, HG00707, HG00463, HG00614, HG00577, HG00428, HG00475, HG00542, HG00701, HG00683, HG00698, HG00651, HG00557, HG00592, HG00635, HG00543, HG00556, HG00593, HG00472, HG00421, HG00583, HG00610, HG00692, HG00689, HG00628, HG00533, HG00634, HG00403, HG00662, HG00436, HG00620, HG00653, HG00629, HG00559, HG00560, HG00501, HG00672, HG00478, HG00513, HG00524, HG00512, HG00589, HG00427, HG00590, HG00595, HG00611, HG00650, HG00580, HG00448, HG00608, HG00530, HG00656, HG00566, HG00625, HG00442, HG00473, HG00626, HG00671, HG00702, HG00704, HG00531
Known GenesTXLNG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668322
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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