A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9756500



Internal ID18730746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41930284..41933251hg38UCSC Ensembl
Outerchr21:41929892..41933448hg38UCSC Ensembl
Innerchr21:43350393..43353360hg19UCSC Ensembl
Outerchr21:43350001..43353557hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383557
hg193557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3557753
Supporting Variants
Samples
Known GenesC2CD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9756500
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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