A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15648339



Internal ID955965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20336207..20345226hg38UCSC Ensembl
Innerchr17:20336207..20345226hg38UCSC Ensembl
Outerchr17:20335942..20345472hg38UCSC Ensembl
chr17:20239520..20248539hg19UCSC Ensembl
Innerchr17:20239520..20248539hg19UCSC Ensembl
Outerchr17:20239255..20248785hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389020
hg199020
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640197
Supporting Variants
SamplesHG00589
Known GenesCCDC144CP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15648339
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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