A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6107580



Internal ID9084983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180431921..180437642hg38UCSC Ensembl
chr1:180401056..180406777hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385722
hg195722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664302
Supporting Variants
SamplesNA19900
Known GenesACBD6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6107580
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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