A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9845936



Internal ID6471229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6378100..6385837hg38UCSC Ensembl
Innerchr1:6378101..6385837hg38UCSC Ensembl
Outerchr1:6378100..6385838hg38UCSC Ensembl
chr1:6438160..6445897hg19UCSC Ensembl
Innerchr1:6438161..6445897hg19UCSC Ensembl
Outerchr1:6438160..6445898hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg387738
hg197738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585106
Supporting Variants
SamplesHG03731
Known GenesACOT7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9845936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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