A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10265021



Internal ID2534255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202581914..202585940hg38UCSC Ensembl
Innerchr1:202581914..202585940hg38UCSC Ensembl
Outerchr1:202581755..202585971hg38UCSC Ensembl
chr1:202551042..202555068hg19UCSC Ensembl
Innerchr1:202551042..202555068hg19UCSC Ensembl
Outerchr1:202550883..202555099hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384027
hg194027
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588583
Supporting Variants
SamplesHG02253
Known GenesPPP1R12B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10265021
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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