A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674954



Internal ID9941059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:44439770..44445476hg38UCSC Ensembl
OuterchrX:44439399..44445846hg38UCSC Ensembl
InnerchrX:44299016..44304722hg19UCSC Ensembl
OuterchrX:44298645..44305092hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg386448
hg196448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1398e199
Supporting Variantsessv5681453, essv6409652, essv5787133, essv6223058, essv6334230, essv6206655, essv6202245, essv5880767, essv6394819, essv6427802, essv6046414, essv6388920, essv6114712, essv6391056, essv5901843, essv5855904, essv6581327, essv5586493, essv6458788, essv6516309, essv5755544, essv6366004, essv5567122, essv5746408, essv6405061, essv6209632, essv5788216, essv5547674, essv5504102, essv6071875, essv5459859, essv6336286, essv5904376, essv5911662, essv6094314, essv6050751, essv6355341, essv5794388, essv6505595, essv6347972, essv5689177, essv6100150, essv6532332, essv6399220, essv6467641, essv5809241, essv5751006, essv6409110, essv5509411, essv6409560
SamplesNA19648, NA19664, NA19777, NA19684, NA19746, NA19660, NA19762, NA19728, NA19723, NA19771, NA19782, NA19681, NA19720, NA19651, NA19719, NA19731, NA19722, NA19725, NA19789, NA19657, NA19717, NA19663, NA19788, NA19776, NA19654, NA19774, NA19655, NA19750, NA19761, NA19682, NA19756, NA19685, NA19729, NA19652, NA19747, NA19732, NA19773, NA19679, NA19786, NA19783, NA19759, NA19785, NA19779, NA19716, NA19726, NA19780, NA19661, NA19755, NA19758, NA19676
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674954
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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