A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677824



Internal ID9597243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:11914474..12872013hg38UCSC Ensembl
chr3:11955948..12913512hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38957540
hg19957565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv850e199
Supporting Variantsessv5840344, essv5773698, essv6385555, essv6132706
SamplesNA18999, NA18960, NA18535, NA19676
Known GenesC3orf83, CAND2, MKRN2, PPARG, RAF1, RPL32, SNORA7A, SYN2, TIMP4, TMEM40, TSEN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677824
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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