A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629516



Internal ID7016337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52378355..52383348hg38UCSC Ensembl
Innerchr12:52378355..52383348hg38UCSC Ensembl
Outerchr12:52378079..52383606hg38UCSC Ensembl
chr12:52772139..52777132hg19UCSC Ensembl
Innerchr12:52772139..52777132hg19UCSC Ensembl
Outerchr12:52771863..52777390hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384994
hg194994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14482623, essv14482626, essv14482621, essv14482624, essv14482625, essv14482627, essv14482622
SamplesHG02688, HG03705, HG03709, HG02724, HG03838, HG02778, HG03955
Known GenesKRT84
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629516
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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