A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660439



Internal ID9926544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:23998049..24003755hg38UCSC Ensembl
OuterchrX:23997678..24004125hg38UCSC Ensembl
InnerchrX:24016166..24021872hg19UCSC Ensembl
OuterchrX:24015795..24022242hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg386448
hg196448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5751860, essv6315929, essv6192514, essv6552469, essv5516826, essv6404110, essv6042350, essv5443827, essv6071515, essv6534939, essv5395799, essv6013107, essv6147322, essv5607259, essv6340048, essv6309315, essv6074110, essv5503495, essv5679597, essv6473791, essv6154701, essv6044157, essv6424078, essv5682391, essv6376292, essv5634382, essv5441309, essv6545969, essv6331306, essv5456517, essv5470440, essv6567793, essv6511474, essv5540259, essv5658378, essv5974100, essv6470715, essv6054662, essv5597685, essv6029672, essv6533967, essv5722003, essv6377647, essv6226605, essv6297661, essv6140747, essv6203617, essv5651037, essv6305085, essv6196437, essv6445270, essv5954226, essv6205765, essv5675425, essv6344929, essv6580451, essv5557278, essv5588313, essv5558180, essv6222586, essv5714704, essv5888944, essv5557334, essv5687363, essv6401332
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG00566, HG00589, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00705, HG00427, HG00530, HG00560, HG00629, HG00596, HG00653, HG00577, HG00701, HG00475, HG00436, HG00556, HG00533, HG00583, HG00500, HG00619, HG00692, HG00635, HG00651, HG00404, HG00613, HG00704, HG00463, HG00611, HG00476, HG00625, HG00565, HG00580, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628
Known GenesKLHL15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660439
Frequency
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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