A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10168242



Internal ID3428617
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587719
Supporting Variants
SamplesHG03063
Known GenesITLN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10168242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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