A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981520



Internal ID12625562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6648102..7734210hg38UCSC Ensembl
Innerchr7:6687733..7773841hg19UCSC Ensembl
Innerchr7:6654258..7740366hg18UCSC Ensembl
Innerchr7:6460973..7547081hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg381086109
hg191086109
hg181086109
hg171086109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752174
Supporting Variants
SamplesBEC_289
Known GenesC1GALT1, CCZ1B, COL28A1, LOC100131257, LOC101927354, MIOS, PMS2CL, RPA3, RPA3-AS1, RSPH10B, RSPH10B2, ZNF12, ZNF316
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981520
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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