A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15693216



Internal ID2290137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49156670..49159345hg38UCSC Ensembl
Innerchr17:49156704..49159312hg38UCSC Ensembl
Outerchr17:49156637..49159379hg38UCSC Ensembl
chr17:47234032..47236707hg19UCSC Ensembl
Innerchr17:47234066..47236674hg19UCSC Ensembl
Outerchr17:47233999..47236741hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382676
hg192676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640735
Supporting Variants
SamplesHG02049
Known GenesB4GALNT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15693216
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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