A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612629



Internal ID6652842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:26182347..26183138hg38UCSC Ensembl
Innerchr7:26182347..26183138hg38UCSC Ensembl
Outerchr7:26182034..26183411hg38UCSC Ensembl
chr7:26221967..26222758hg19UCSC Ensembl
Innerchr7:26221967..26222758hg19UCSC Ensembl
Outerchr7:26221654..26223031hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12710385, essv12710394, essv12710389, essv12710395, essv12710391, essv12710386, essv12710392, essv12710397, essv12710393, essv12710383, essv12710387, essv12710388, essv12710384, essv12710396, essv12710390, essv12710382
SamplesHG00956, HG02407, HG01847, NA18541, NA18943, HG00543, HG02081, HG02390, NA18627, HG01851, HG02078, HG02364, HG00410, NA18740, NA18533, NA18549
Known GenesNFE2L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612629
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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