A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591524



Internal ID6978852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84947301..84948687hg38UCSC Ensembl
Innerchr2:84947301..84948687hg38UCSC Ensembl
Outerchr2:84947063..84948924hg38UCSC Ensembl
chr2:85174424..85175810hg19UCSC Ensembl
Innerchr2:85174424..85175810hg19UCSC Ensembl
Outerchr2:85174186..85176047hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381387
hg191387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10568560, essv10568563, essv10568562, essv10568561
SamplesHG01413, HG01052, HG00740, HG01101
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591524
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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