A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592372



Internal ID6632655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127966334..127968518hg38UCSC Ensembl
Innerchr2:127966484..127968368hg38UCSC Ensembl
Outerchr2:127966184..127968668hg38UCSC Ensembl
chr2:128723908..128726092hg19UCSC Ensembl
Innerchr2:128724058..128725942hg19UCSC Ensembl
Outerchr2:128723758..128726242hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382185
hg192185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10664760, essv10664759, essv10664761, essv10664758, essv10664762
SamplesHG02122, HG02049, NA18641, HG02073, NA18567
Known GenesSAP130
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592372
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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