A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673419



Internal ID9592838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180303273..180304803hg38UCSC Ensembl
chr1:180272408..180273938hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381531
hg191531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6078930, essv5430767, essv5791131, essv6209947, essv5847476, essv6527077, essv6441971, essv6086240, essv6159823, essv5902890, essv5438337, essv6202029, essv5956326
SamplesHG00309, HG00318, HG01173, HG00334, HG00353, HG00242, HG00372, HG00284, NA19818, HG00324, HG00278, HG00327, HG00361
Known GenesACBD6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673419
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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