A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640735



Internal ID7027509
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15693215, essv15693216
SamplesHG00844, HG02049
Known GenesB4GALNT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640735
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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