A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662848



Internal ID9582267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57195540..57202955hg38UCSC Ensembl
chr19:57706908..57714323hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg387416
hg197416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6002907, essv5801711, essv6433305, essv6584108, essv5748279, essv5605396, essv5568470
SamplesNA18498, NA20287, NA19235, NA19908, NA19247, NA19391, NA19982
Known GenesZNF264
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662848
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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