A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15594631



Internal ID6094468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4328882..4330606hg38UCSC Ensembl
Innerchr17:4328902..4330587hg38UCSC Ensembl
Outerchr17:4328863..4330626hg38UCSC Ensembl
chr17:4232177..4233901hg19UCSC Ensembl
Innerchr17:4232197..4233882hg19UCSC Ensembl
Outerchr17:4232158..4233921hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381725
hg191725
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639774
Supporting Variants
SamplesNA19473
Known GenesUBE2G1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15594631
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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