A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752174



Internal ID12639040
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 StatusM
Merged Variants
Supporting Variantsessv6985594, essv6981522, essv6981521, essv6988413, essv6981520
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752174
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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