A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591821



Internal ID6979149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104929096..104933617hg38UCSC Ensembl
Innerchr2:104929097..104933616hg38UCSC Ensembl
Outerchr2:104929095..104933618hg38UCSC Ensembl
chr2:105545554..105550075hg19UCSC Ensembl
Innerchr2:105545555..105550074hg19UCSC Ensembl
Outerchr2:105545553..105550076hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg384522
hg194522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598621, essv10598617, essv10598626, essv10598619, essv10598624, essv10598618, essv10598620, essv10598623, essv10598622, essv10598627, essv10598628, essv10598625
SamplesHG01413, HG01052, HG00368, HG01768, HG01390, HG02787, NA19740, NA19834, HG00381, HG01631, NA12006, HG01747
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591821
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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