A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987202



Internal ID12636384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88710834..88867480hg38UCSC Ensembl
Innerchr7:88340148..88496794hg19UCSC Ensembl
Innerchr7:88178084..88334730hg18UCSC Ensembl
Innerchr7:87984799..88141445hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38156647
hg19156647
hg18156647
hg17156647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752188
Supporting Variants
SamplesSPC_136
Known GenesC7orf62, ZNF804B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987202
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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