A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587719



Internal ID6975142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160877086..160881606hg38UCSC Ensembl
Innerchr1:160877086..160881606hg38UCSC Ensembl
Outerchr1:160876740..160881951hg38UCSC Ensembl
chr1:160846876..160851396hg19UCSC Ensembl
Innerchr1:160846876..160851396hg19UCSC Ensembl
Outerchr1:160846530..160851741hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg384521
hg194521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10168242, essv10168244, essv10168243
SamplesNA19372, NA19017, HG03063
Known GenesITLN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587719
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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