A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659002



Internal ID9925107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186625980..186626977hg38UCSC Ensembl
chr4:187547134..187548131hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38998
hg19998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6590063, essv5650396, essv6054403, essv5729188, essv6157569, essv5746812, essv6169013, essv5907041, essv5935742, essv6175992, essv5480604, essv6222810, essv5789283, essv5784841, essv5670299, essv5439657, essv6506958
SamplesNA11830, HG01389, NA19448, HG01354, HG00108, HG00149, HG01384, HG00284, HG00146, HG00254, HG00136, NA19818, NA19468, HG00123, NA20754, HG00553, NA20509
Known GenesFAT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659002
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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