A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14583636



Internal ID6859180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:97729969..97739922hg38UCSC Ensembl
Innerchr12:97729969..97739922hg38UCSC Ensembl
Outerchr12:97729469..97740422hg38UCSC Ensembl
chr12:98123747..98133700hg19UCSC Ensembl
Innerchr12:98123747..98133700hg19UCSC Ensembl
Outerchr12:98123247..98134200hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg389954
hg199954
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630483
Supporting Variants
SamplesNA21091
Known GenesLOC643711
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14583636
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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