A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14614136



Internal ID2506395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117635800..117637777hg38UCSC Ensembl
Innerchr12:117635810..117637767hg38UCSC Ensembl
Outerchr12:117635790..117637787hg38UCSC Ensembl
chr12:118073605..118075582hg19UCSC Ensembl
Innerchr12:118073615..118075572hg19UCSC Ensembl
Outerchr12:118073595..118075592hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg381978
hg191978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630872
Supporting Variants
SamplesHG02224
Known GenesKSR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14614136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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