A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15641751



Internal ID3006703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18562395..18590674hg38UCSC Ensembl
Innerchr17:18562395..18590674hg38UCSC Ensembl
Outerchr17:18561895..18591174hg38UCSC Ensembl
chr17:18465709..18493988hg19UCSC Ensembl
Innerchr17:18465709..18493988hg19UCSC Ensembl
Outerchr17:18465209..18494488hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3828280
hg1928280
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640155
Supporting Variants
SamplesHG02651
Known GenesCCDC144B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15641751
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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