A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620575



Internal ID7007445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70224374..70225669hg38UCSC Ensembl
Innerchr9:70224424..70225619hg38UCSC Ensembl
Outerchr9:70224300..70225743hg38UCSC Ensembl
chr9:72839290..72840585hg19UCSC Ensembl
Innerchr9:72839340..72840535hg19UCSC Ensembl
Outerchr9:72839216..72840659hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg381296
hg191296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13512315
SamplesHG00737
Known GenesMAMDC2, SMC5-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620575
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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