A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656629



Internal ID9922734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73946227..73949977hg38UCSC Ensembl
chrX:73166062..73169812hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg383751
hg193751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5452580, essv5689428, essv6329840, essv6400429, essv5549527, essv6340667, essv6423098, essv5525179, essv5527644, essv6058349, essv5987679, essv5917216, essv5425122, essv6121558, essv5963142, essv5651076, essv6067195, essv5449782, essv5787229, essv5672964, essv5829669, essv6539742, essv5612644, essv5859888, essv6590512, essv6493782, essv6126559, essv6473077, essv5548667, essv6097784, essv5964045, essv6509234
SamplesNA19394, HG01188, NA18486, NA20294, NA19746, HG01366, NA19313, NA18498, NA19681, NA19904, NA19384, NA19130, HG01170, HG01440, NA19657, NA19347, NA19982, NA18910, NA19469, NA20296, NA19473, HG01551, NA19435, NA19470, NA19360, NA19818, NA18501, NA19468, NA18873, NA19463, NA18522, NA19429
Known GenesJPX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656629
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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