A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9747361



Internal ID18374921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1293389..1293565hg38UCSC Ensembl
Outerchr12:1293355..1293600hg38UCSC Ensembl
Innerchr12:1402555..1402731hg19UCSC Ensembl
Outerchr12:1402521..1402766hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3548614
Supporting Variants
Samples
Known GenesERC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9747361
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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