A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983830



Internal ID12629321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76507967..76920728hg38UCSC Ensembl
Innerchr7:76137284..76550045hg19UCSC Ensembl
Innerchr7:75975220..76387981hg18UCSC Ensembl
Innerchr7:75781935..76194696hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38412762
hg19412762
hg18412762
hg17412762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752182
Supporting Variants
SamplesBEC_631
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983830
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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