A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675277



Internal ID9941382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:123181755..123182293hg38UCSC Ensembl
OuterchrX:123181598..123182446hg38UCSC Ensembl
InnerchrX:122315608..122316146hg19UCSC Ensembl
OuterchrX:122315451..122316299hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5735191, essv6571007
SamplesNA19213, NA19129
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675277
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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