A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587199



Internal ID6627506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111799293..111816927hg38UCSC Ensembl
Innerchr1:111799339..111816882hg38UCSC Ensembl
Outerchr1:111799248..111816973hg38UCSC Ensembl
chr1:112341915..112359549hg19UCSC Ensembl
Innerchr1:112341961..112359504hg19UCSC Ensembl
Outerchr1:112341870..112359595hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3817635
hg1917635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10069256
SamplesHG00626
Known GenesKCND3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587199
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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