A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14551437



Internal ID1383252
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630163
Supporting Variants
SamplesHG01253
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14551437
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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