A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410205



Internal ID1249343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23514364..23522355hg38UCSC Ensembl
Innerchr12:23514379..23522341hg38UCSC Ensembl
Outerchr12:23514350..23522370hg38UCSC Ensembl
chr12:23667298..23675289hg19UCSC Ensembl
Innerchr12:23667313..23675275hg19UCSC Ensembl
Outerchr12:23667284..23675304hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387992
hg197992
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628848
Supporting Variants
SamplesHG01104
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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