A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9958929



Internal ID1997333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67106019..67110772hg38UCSC Ensembl
Innerchr1:67106019..67110772hg38UCSC Ensembl
Outerchr1:67105938..67110820hg38UCSC Ensembl
chr1:67571702..67576455hg19UCSC Ensembl
Innerchr1:67571702..67576455hg19UCSC Ensembl
Outerchr1:67571621..67576503hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384754
hg194754
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586304
Supporting Variants
SamplesHG01849
Known GenesC1orf141
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9958929
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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