A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666702



Internal ID9586121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144556627..144557637hg38UCSC Ensembl
chr8:145782011..145783021hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6293851, essv6437316, essv6021140, essv6303179, essv5552908, essv5551137, essv6111047, essv6267002, essv6248122, essv6308684, essv6421746, essv6171891, essv5917361, essv6255704, essv5713945
SamplesHG00257, NA18616, HG00701, HG00404, NA19438, HG00593, NA19057, HG00403, HG00501, HG00524, HG00534, HG00443, NA19327, HG00693, HG00476
Known GenesARHGAP39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666702
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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