A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929182



Internal ID1843486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51313231..51317480hg38UCSC Ensembl
Innerchr1:51313231..51317480hg38UCSC Ensembl
Outerchr1:51312731..51317980hg38UCSC Ensembl
chr1:51778903..51783152hg19UCSC Ensembl
Innerchr1:51778903..51783152hg19UCSC Ensembl
Outerchr1:51778403..51783652hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384250
hg194250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586033
Supporting Variants
SamplesHG01709
Known GenesTTC39A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929182
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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