A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978341



Internal ID12635121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72578064..72803235hg38UCSC Ensembl
Innerchr7:72043049..72268249hg19UCSC Ensembl
Innerchr7:71680985..71906185hg18UCSC Ensembl
Innerchr7:71487700..71712900hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38225172
hg19225201
hg18225201
hg17225201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34349
Supporting Variants
SamplesNA19003
Known GenesMIR4650-1, MIR4650-2, TYW1B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978341
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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