A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15640609



Internal ID6532112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18515482..18561769hg38UCSC Ensembl
Innerchr17:18515482..18561769hg38UCSC Ensembl
Outerchr17:18514982..18562269hg38UCSC Ensembl
chr17:18418796..18465083hg19UCSC Ensembl
Innerchr17:18418796..18465083hg19UCSC Ensembl
Outerchr17:18418296..18465583hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3846288
hg1946288
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640153
Supporting Variants
SamplesNA20582
Known GenesCCDC144B, FAM106A, USP32P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15640609
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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