A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752178



Internal ID12639044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76374650..77091265hg38UCSC Ensembl
Innerchr7:76003967..76720582hg19UCSC Ensembl
Innerchr7:75841903..76558518hg18UCSC Ensembl
Innerchr7:75648618..76365233hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38716616
hg19716616
hg18716616
hg17716616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv232e55
Supporting Variantsessv6985013, essv6985015, essv6985014, essv6988880, essv6985012
SamplesBEC_817
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100132832, LOC100133091, POMZP3, SRCRB4D, UPK3B, ZP3
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)esv2752178
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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