A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600929



Internal ID6987968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70093367..70135429hg38UCSC Ensembl
Innerchr4:70093367..70135429hg38UCSC Ensembl
Outerchr4:70092867..70135929hg38UCSC Ensembl
chr4:70959084..71001146hg19UCSC Ensembl
Innerchr4:70959084..71001146hg19UCSC Ensembl
Outerchr4:70958584..71001646hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3842063
hg1942063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11493578, essv11493579, essv11493580, essv11493581
SamplesNA19703, NA19920, HG01088, HG02805
Known GenesCSN1S2BP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600929
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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