A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10076493



Internal ID78309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112494070..112495334hg38UCSC Ensembl
Innerchr1:112494073..112495332hg38UCSC Ensembl
Outerchr1:112494068..112495337hg38UCSC Ensembl
chr1:113036692..113037956hg19UCSC Ensembl
Innerchr1:113036695..113037954hg19UCSC Ensembl
Outerchr1:113036690..113037959hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381265
hg191265
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587213
Supporting Variants
SamplesHG03027
Known GenesWNT2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10076493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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