A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678539



Internal ID9944644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:56353647..56358453hg38UCSC Ensembl
Outerchr19:56353276..56358823hg38UCSC Ensembl
Innerchr19:56865016..56869822hg19UCSC Ensembl
Outerchr19:56864645..56870192hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg385548
hg195548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5461366, essv5771840, essv5896854, essv6196598, essv5562109, essv5569786, essv6390392, essv5755353, essv6093185, essv6348000, essv5465345, essv6069056, essv6508280, essv5775404, essv6555450
SamplesNA19355, NA19319, NA19384, NA19347, NA19391, NA19327, NA19338, NA19469, NA19318, NA19436, NA19401, NA19439, NA19360, NA19438, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678539
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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