A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989956



Internal ID12630269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76383349..77190972hg38UCSC Ensembl
Innerchr7:76012666..76820289hg19UCSC Ensembl
Innerchr7:75850602..76658225hg18UCSC Ensembl
Innerchr7:75657317..76464940hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38807624
hg19807624
hg18807624
hg17807624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752179
Supporting Variants
SamplesBEC_704
Known GenesCCDC146, DTX2, DTX2P1-UPK3BP1-PMS2P11, FDPSP2, LOC100132832, LOC100133091, POMZP3, SRCRB4D, UPK3B, ZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989956
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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