A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674234



Internal ID9593653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:155673048..155677151hg38UCSC Ensembl
chr4:156594200..156598303hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg384104
hg194104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5921566, essv6162739, essv5481715, essv6346838, essv6481038, essv6170936, essv5710023, essv5745534, essv5594303, essv6545068, essv6199281, essv5766178, essv6595468, essv5415975, essv5972472, essv5642877, essv5691283, essv5562283, essv6041547
SamplesNA19436, NA19404, NA18511, NA19455, NA19236, NA18505, NA19147, NA19428, NA19239, NA19397, NA19700, NA19372, NA18522, NA19235, NA19138, NA19452, NA18499, NA19350, NA19468
Known GenesGUCY1A3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674234
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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