A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613678



Internal ID6653887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72942881..73297976hg38UCSC Ensembl
Innerchr7:72943381..73297476hg38UCSC Ensembl
Outerchr7:72941881..73298976hg38UCSC Ensembl
chr7:72413420..72711976hg19UCSC Ensembl
Innerchr7:72413920..72711476hg19UCSC Ensembl
Outerchr7:72412420..72712976hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38355096
hg19298557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12840963, essv12840959, essv12840960, essv12840961, essv12840962, essv12840964, essv12840969, essv12840968, essv12840967, essv12840972, essv12840971, essv12840970, essv12840965, essv12840966, essv12840958
SamplesHG02107, HG01817, NA12286, HG01105, NA18994, HG02789, HG03899, HG03717, HG01977, HG01066, NA19024, NA18986, NA19002, NA18971, HG00281
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE8P, STAG3L1, STAG3L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613678
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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