A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789555



Internal ID19162684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:130900794..131003466hg38UCSC Ensembl
Innerchr7:130585553..130688225hg19UCSC Ensembl
Innerchr7:130236093..130338765hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38102673
hg19102673
hg18102673
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891207
Supporting Variants
Samples
Known GenesLINC-PINT, LOC646329
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=29
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789555
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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