A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988047



Internal ID12979113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7441804..7532331hg38UCSC Ensembl
InnerchrX:7359845..7450372hg19UCSC Ensembl
InnerchrX:7369845..7460372hg18UCSC Ensembl
InnerchrX:7219581..7310108hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3890528
hg1990528
hg1890528
hg1790528
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34462
Supporting Variants
SamplesNA12248
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988047
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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