A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678869



Internal ID9944974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:27627617..27627750hg38UCSC Ensembl
chrX:27645734..27645867hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5418531, essv6153014, essv5727768, essv5589558, essv5421811, essv5555729, essv6111412, essv5996109, essv6410189, essv5976218, essv6252365, essv6568973, essv6422912, essv5683545, essv5980267, essv6021100, essv6515654, essv5488254, essv5832044, essv5910594, essv5462805, essv6260259, essv6157191, essv6541780
SamplesHG01060, HG01441, NA18561, NA18545, NA18616, NA18619, NA12348, NA20287, NA19782, HG00590, HG01069, NA19731, HG00705, NA19722, NA19725, NA19789, HG01095, HG00475, HG01498, NA19654, HG01101, NA18610, NA19779, NA18623
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678869
Frequency
Sample Size1151
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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