A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6552194



Internal ID9739723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67533569..67534341hg38UCSC Ensembl
chr12:67927349..67928121hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673877
Supporting Variants
SamplesNA19675
Known GenesLOC100507175
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6552194
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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