A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752313



Internal ID12985865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:117365155..117436155hg38UCSC Ensembl
InnerchrX:116499118..116570118hg19UCSC Ensembl
InnerchrX:116383146..116454146hg18UCSC Ensembl
InnerchrX:116281000..116352000hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3871001
hg1971001
hg1871001
hg1771001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990111, essv6985293, essv6985294, essv6985292
SamplesSPC_138
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752313
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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