A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590143



Internal ID6977472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27587863..27588905hg38UCSC Ensembl
Innerchr2:27587863..27588905hg38UCSC Ensembl
Outerchr2:27587623..27589126hg38UCSC Ensembl
chr2:27810730..27811772hg19UCSC Ensembl
Innerchr2:27810730..27811772hg19UCSC Ensembl
Outerchr2:27810490..27811993hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10436733, essv10436731, essv10436730, essv10436727, essv10436734, essv10436729, essv10436737, essv10436728, essv10436732, essv10436726, essv10436736, essv10436735
SamplesHG00257, HG02277, NA21115, HG01069, NA20775, HG01440, HG01259, NA20515, NA20885, HG01077, NA19773, HG02239
Known GenesZNF512
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590143
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer