A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671312



Internal ID9937417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:155057155..155057456hg38UCSC Ensembl
OuterchrX:155056998..155057609hg38UCSC Ensembl
InnerchrX:154285430..154285731hg19UCSC Ensembl
OuterchrX:154285273..154285884hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5854316, essv5565632, essv5471951, essv6465131, essv6161882, essv5714098, essv5699603
SamplesHG00249, HG00277, HG00253, HG00137, HG00320, HG00250, HG00125
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671312
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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