A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680593



Internal ID5682409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44158767..44164403hg38UCSC Ensembl
Innerchr17:44159267..44163903hg38UCSC Ensembl
Outerchr17:44157767..44165403hg38UCSC Ensembl
chr17:42236135..42241771hg19UCSC Ensembl
Innerchr17:42236635..42241271hg19UCSC Ensembl
Outerchr17:42235135..42242771hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385637
hg195637
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640642
Supporting Variants
SamplesHG02079
Known GenesC17orf53
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680593
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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