A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15595076



Internal ID2685132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4412812..4481920hg38UCSC Ensembl
Innerchr17:4412962..4481770hg38UCSC Ensembl
Outerchr17:4412662..4482070hg38UCSC Ensembl
chr17:4316107..4385215hg19UCSC Ensembl
Innerchr17:4316257..4385065hg19UCSC Ensembl
Outerchr17:4315957..4385365hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3869109
hg1969109
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639779
Supporting Variants
SamplesHG02379
Known GenesSPNS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15595076
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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