A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601249



Internal ID6641506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85783646..85786263hg38UCSC Ensembl
Innerchr4:85783646..85786263hg38UCSC Ensembl
Outerchr4:85783439..85786478hg38UCSC Ensembl
chr4:86704799..86707416hg19UCSC Ensembl
Innerchr4:86704799..86707416hg19UCSC Ensembl
Outerchr4:86704592..86707631hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg382618
hg192618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11526654, essv11526650, essv11526651, essv11526655, essv11526649, essv11526652, essv11526653
SamplesHG01515, HG01131, HG01680, NA12763, NA11933, HG00097, NA12045
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601249
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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