A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6078594



Internal ID9055997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24417811..24430337hg38UCSC Ensembl
Outerchr12:24417744..24430397hg38UCSC Ensembl
Innerchr12:24570745..24583271hg19UCSC Ensembl
Outerchr12:24570678..24583331hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3812654
hg1912654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676317
Supporting Variants
SamplesHG01073
Known GenesSOX5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6078594
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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