A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14548536



Internal ID1751005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80562774..80615280hg38UCSC Ensembl
Innerchr12:80562783..80615271hg38UCSC Ensembl
Outerchr12:80562765..80615289hg38UCSC Ensembl
chr12:80956553..81009059hg19UCSC Ensembl
Innerchr12:80956562..81009050hg19UCSC Ensembl
Outerchr12:80956544..81009068hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3852507
hg1952507
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630116
Supporting Variants
SamplesHG01617
Known GenesPTPRQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14548536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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