A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671838



Internal ID9937943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:152174514..152175113hg38UCSC Ensembl
chr4:153095666..153096265hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6329511, essv6400036, essv5512787, essv5489255, essv6418419, essv5655013, essv6518010, essv5543809, essv5565608, essv5491590, essv5969745, essv5939695, essv6238952, essv6400829, essv6309736, essv5549338, essv6160656, essv5612756, essv6566777, essv5440684, essv6313027, essv6579217, essv6178261, essv5884871, essv6469564, essv6333804, essv5633420, essv5652499, essv5459749, essv5715633, essv6483348, essv5575811, essv6185496, essv5881557, essv5733641, essv5872575, essv6037143, essv5979716, essv5627411
SamplesHG00249, NA20508, NA11829, HG01052, NA20531, HG01389, NA12058, NA20806, HG00251, NA20798, NA12283, NA12287, HG01069, HG00335, HG00309, HG00264, HG00133, NA12777, HG00266, HG00176, NA20787, HG00320, NA12718, NA12249, HG01101, HG00276, NA19675, NA20801, HG00265, NA12272, NA20790, HG00237, HG01491, HG01055, HG00123, HG00186, HG00345, NA12006, HG00180
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671838
Frequency
Sample Size1151
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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