A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9964864



Internal ID3221220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71253078..71265862hg38UCSC Ensembl
Innerchr1:71253080..71265861hg38UCSC Ensembl
Outerchr1:71253077..71265864hg38UCSC Ensembl
chr1:71718761..71731545hg19UCSC Ensembl
Innerchr1:71718763..71731544hg19UCSC Ensembl
Outerchr1:71718760..71731547hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3812785
hg1912785
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586378
Supporting Variants
SamplesHG02820
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9964864
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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