A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678377



Internal ID9597796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24829669..24830286hg38UCSC Ensembl
chr2:25052538..25053155hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38618
hg19618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5497122, essv6195233, essv6010871, essv5928036, essv6253798, essv5605871, essv6341483, essv5406788, essv6573560, essv5700532, essv5411116, essv5584057, essv6504527, essv6471890, essv5745290, essv6166428, essv6570849, essv5850865, essv5457126, essv6239694, essv6471089, essv5514377, essv5402795, essv6470876, essv6062194, essv5986184, essv5879123, essv5753464, essv6176277, essv6131750, essv5449995, essv5801472, essv5849471, essv6565343
SamplesNA19152, HG01173, NA20759, NA18953, HG01488, NA19449, NA19461, NA19144, NA19701, NA18873, NA19428, NA12763, HG01140, NA12761, HG00149, HG00338, NA19835, NA19700, HG00343, NA12006, NA07346, NA12890, NA20756, NA19431, NA20810, HG00123, NA19399, HG01108, NA12045, NA19171, HG00641, HG01489, HG00336, NA20517
Known GenesADCY3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678377
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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