A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628913



Internal ID6669053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26198686..26200406hg38UCSC Ensembl
Innerchr12:26198687..26200405hg38UCSC Ensembl
Outerchr12:26198685..26200407hg38UCSC Ensembl
chr12:26351619..26353339hg19UCSC Ensembl
Innerchr12:26351620..26353338hg19UCSC Ensembl
Outerchr12:26351618..26353340hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381721
hg191721
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14416712, essv14416713
SamplesNA20321, NA20320
Known GenesSSPN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628913
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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