A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674896



Internal ID9594315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81207568..81208521hg38UCSC Ensembl
chrX:80463067..80464020hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38954
hg19954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6049932, essv6206227
SamplesHG00531, NA18632
Known GenesSH3BGRL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674896
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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