A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218895



Internal ID5215259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57210263..57212139hg38UCSC Ensembl
Innerchr20:57210263..57212139hg38UCSC Ensembl
Outerchr20:57210061..57212354hg38UCSC Ensembl
chr20:55785319..55787195hg19UCSC Ensembl
Innerchr20:55785319..55787195hg19UCSC Ensembl
Outerchr20:55785117..55787410hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381877
hg191877
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646209
Supporting Variants
SamplesNA18620
Known GenesBMP7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218895
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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