A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658523



Internal ID9577942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8210659..8212324hg38UCSC Ensembl
chr4:8212386..8214051hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381666
hg191666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6077208, essv6004802, essv6076170, essv5787090, essv6484726, essv6550567, essv5671794, essv6169288, essv5849908, essv6133312
SamplesNA19404, NA19462, NA19391, NA19395, NA19473, NA19472, NA19713, NA19093, NA19711, NA18511
Known GenesSH3TC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658523
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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