A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9851638



Internal ID6291067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10007132..10008617hg38UCSC Ensembl
Innerchr1:10007132..10008617hg38UCSC Ensembl
Outerchr1:10006807..10008887hg38UCSC Ensembl
chr1:10067190..10068675hg19UCSC Ensembl
Innerchr1:10067190..10068675hg19UCSC Ensembl
Outerchr1:10066865..10068945hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381486
hg191486
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585193
Supporting Variants
SamplesNA19835
Known GenesRBP7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9851638
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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