A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645891



Internal ID6685952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43718815..43731133hg38UCSC Ensembl
Innerchr20:43718875..43731073hg38UCSC Ensembl
Outerchr20:43718755..43731193hg38UCSC Ensembl
chr20:42347455..42359773hg19UCSC Ensembl
Innerchr20:42347515..42359713hg19UCSC Ensembl
Outerchr20:42347395..42359833hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3812319
hg1912319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16192788
SamplesHG00190
Known GenesGTSF1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645891
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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