A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3541250



Internal ID18395640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16132582..16134375hg38UCSC Ensembl
Outerchr7:16132117..16134538hg38UCSC Ensembl
Innerchr7:16172207..16174000hg19UCSC Ensembl
Outerchr7:16171742..16174163hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg382422
hg192422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9739997
Samples
Known GenesISPD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3541250
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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