A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978268



Internal ID12981695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76417007..76910324hg38UCSC Ensembl
Innerchr7:76046324..76539641hg19UCSC Ensembl
Innerchr7:75884260..76377577hg18UCSC Ensembl
Innerchr7:75690975..76184292hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38493318
hg19493318
hg18493318
hg17493318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34615
Supporting Variants
SamplesNA18994
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B, ZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978268
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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