A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591652



Internal ID6631936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94707629..96454862hg38UCSC Ensembl
Innerchr2:94707980..96454511hg38UCSC Ensembl
Outerchr2:94707278..96455213hg38UCSC Ensembl
chr2:95373350..97120599hg19UCSC Ensembl
Innerchr2:95373701..97120248hg19UCSC Ensembl
Outerchr2:95372999..97120950hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381747234
hg191747250
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10587497, essv10587498
SamplesHG03679, HG04035
Known GenesADRA2B, ANKRD20A8P, ASTL, CIAO1, DUSP2, FAHD2A, FAHD2CP, FAM95A, GPAT2, ITPRIPL1, KCNIP3, LINC00342, LOC442028, MAL, MRPS5, NCAPH, PROM2, SNRNP200, STARD7, STARD7-AS1, TEKT4, TMEM127, TRIM43, TRIM43B, ZNF2, ZNF514
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591652
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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