A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6309946



Internal ID9287349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87347091..87353146hg38UCSC Ensembl
chr4:88268243..88274298hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386056
hg196056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2665467
Supporting Variants
SamplesHG01069
Known GenesHSD17B11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6309946
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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