A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630163



Internal ID7016982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82639989..82647356hg38UCSC Ensembl
Innerchr12:82640005..82647341hg38UCSC Ensembl
Outerchr12:82639974..82647372hg38UCSC Ensembl
chr12:83033768..83041135hg19UCSC Ensembl
Innerchr12:83033784..83041120hg19UCSC Ensembl
Outerchr12:83033753..83041151hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387368
hg197368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14551437, essv14551438
SamplesHG01256, HG01253
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630163
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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