A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425717



Internal ID14925988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95859900..97515905hg38UCSC Ensembl
Innerchr2:95859950..97515855hg38UCSC Ensembl
Outerchr2:95859850..97515955hg38UCSC Ensembl
chr2:96525648..98132368hg19UCSC Ensembl
Innerchr2:96525698..98132318hg19UCSC Ensembl
Outerchr2:96525598..98132418hg19UCSC Ensembl
chr2:95889375..97498800hg18UCSC Ensembl
Innerchr2:95889425..97498750hg18UCSC Ensembl
Outerchr2:95889325..97498850hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381656006
hg191606721
hg181609426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741069
SamplesNA19240
Known GenesADRA2B, ANKRD23, ANKRD36, ANKRD36B, ANKRD39, ARID5A, ASTL, CIAO1, CNNM3, CNNM4, DUSP2, FAHD2B, FAHD2CP, FAM178B, FER1L5, GPAT2, ITPRIPL1, KANSL3, LMAN2L, LOC100506076, LOC100506123, MIR3127, NCAPH, NEURL3, SEMA4C, SNRNP200, STARD7, STARD7-AS1, TMEM127
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425717
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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