A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15676049



Internal ID3730649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41217877..41222354hg38UCSC Ensembl
Innerchr17:41217901..41222330hg38UCSC Ensembl
Outerchr17:41217853..41222378hg38UCSC Ensembl
chr17:39374129..39378606hg19UCSC Ensembl
Innerchr17:39374153..39378582hg19UCSC Ensembl
Outerchr17:39374105..39378630hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384478
hg194478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640580
Supporting Variants
SamplesHG03366
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15676049
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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