A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612750



Internal ID6999650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:32819357..34943575hg38UCSC Ensembl
Innerchr7:32819420..34943512hg38UCSC Ensembl
Outerchr7:32819294..34943638hg38UCSC Ensembl
chr7:32858969..34983187hg19UCSC Ensembl
Innerchr7:32859032..34983124hg19UCSC Ensembl
Outerchr7:32858906..34983250hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg382124219
hg192124219
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12722322, essv12722318, essv12722319, essv12722320, essv12722321
SamplesHG02489, NA20278, HG02484, HG02181, NA20334
Known GenesBBS9, BMPER, DPY19L1, FKBP9, KBTBD2, NPSR1, NPSR1-AS1, NT5C3A, RP9, RP9P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612750
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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