A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15650703



Internal ID5652519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21203666..21208299hg38UCSC Ensembl
Innerchr17:21204166..21207799hg38UCSC Ensembl
Outerchr17:21202666..21209299hg38UCSC Ensembl
chr17:21106979..21111612hg19UCSC Ensembl
Innerchr17:21107479..21111112hg19UCSC Ensembl
Outerchr17:21105979..21112612hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384634
hg194634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640229
Supporting Variants
SamplesHG01615
Known GenesTMEM11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15650703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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