A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640197



Internal ID7026972
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15648339, essv15648341, essv15648343, essv15648342, essv15648340
SamplesHG00589, HG00675, HG02134, HG02084, NA18591
Known GenesCCDC144CP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640197
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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