A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6318567



Internal ID9295970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93803661..93808895hg38UCSC Ensembl
Outerchr12:93803624..93808945hg38UCSC Ensembl
Innerchr12:94197437..94202671hg19UCSC Ensembl
Outerchr12:94197400..94202721hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385322
hg195322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671632
Supporting Variants
SamplesNA19655
Known GenesCRADD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6318567
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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