A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10697410



Internal ID2554469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144919140..144923078hg38UCSC Ensembl
Innerchr2:144919140..144923078hg38UCSC Ensembl
Outerchr2:144918938..144923251hg38UCSC Ensembl
chr2:145676707..145680645hg19UCSC Ensembl
Innerchr2:145676707..145680645hg19UCSC Ensembl
Outerchr2:145676505..145680818hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg383939
hg193939
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592784
Supporting Variants
SamplesHG02271
Known GenesTEX41
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10697410
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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