A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591196



Internal ID6631480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70025793..70026959hg38UCSC Ensembl
Innerchr2:70025818..70026934hg38UCSC Ensembl
Outerchr2:70025768..70026984hg38UCSC Ensembl
chr2:70252925..70254091hg19UCSC Ensembl
Innerchr2:70252950..70254066hg19UCSC Ensembl
Outerchr2:70252900..70254116hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381167
hg191167
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10536662, essv10536660, essv10536661
SamplesHG02722, HG03653, HG03863
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591196
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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