A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542350



Internal ID18743426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:120665113..120674125hg38UCSC Ensembl
Outerchr7:120663913..120675446hg38UCSC Ensembl
Innerchr7:120305167..120314179hg19UCSC Ensembl
Outerchr7:120303967..120315500hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3811534
hg1911534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741097
Samples
Known GenesKCND2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542350
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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