A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10587497



Internal ID589313
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591652
Supporting Variants
SamplesHG03679
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)essv10587497
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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