A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14431052



Internal ID2906954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30761075..30762348hg38UCSC Ensembl
Innerchr12:30761125..30762288hg38UCSC Ensembl
Outerchr12:30760961..30762462hg38UCSC Ensembl
chr12:30914009..30915282hg19UCSC Ensembl
Innerchr12:30914059..30915222hg19UCSC Ensembl
Outerchr12:30913895..30915396hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629023
Supporting Variants
SamplesHG02574
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14431052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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