A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987203



Internal ID12636385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:89018821..90242406hg38UCSC Ensembl
Innerchr7:88648135..89871720hg19UCSC Ensembl
Innerchr7:88486071..89709656hg18UCSC Ensembl
Innerchr7:88292786..89516371hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg381223586
hg191223586
hg181223586
hg171223586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752188
Supporting Variants
SamplesSPC_136
Known GenesDPY19L2P4, STEAP1, STEAP2, ZNF804B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987203
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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