A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752335



Internal ID12639201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7862723..8469952hg38UCSC Ensembl
InnerchrX:7830764..8437993hg19UCSC Ensembl
InnerchrX:7790764..8397993hg18UCSC Ensembl
InnerchrX:7640500..8247729hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38607230
hg19607230
hg18607230
hg17607230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982713, essv6982712, essv6986248, essv6982714, essv6986249
SamplesBEC_581
Known GenesMIR651, PNPLA4, VCX2, VCX3B
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)esv2752335
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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