A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985283



Internal ID12636378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88548534..90195135hg38UCSC Ensembl
Innerchr7:88177849..89824449hg19UCSC Ensembl
Innerchr7:88015785..89662385hg18UCSC Ensembl
Innerchr7:87822500..89469100hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381646602
hg191646601
hg181646601
hg171646601
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752188
Supporting Variants
SamplesSPC_136
Known GenesC7orf62, DPY19L2P4, STEAP1, ZNF804B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985283
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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