A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13505067



Internal ID4470410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68971147..68978158hg38UCSC Ensembl
Innerchr9:68971172..68978133hg38UCSC Ensembl
Outerchr9:68971122..68978183hg38UCSC Ensembl
chr9:71586063..71593074hg19UCSC Ensembl
Innerchr9:71586088..71593049hg19UCSC Ensembl
Outerchr9:71586038..71593099hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg387012
hg197012
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620550
Supporting Variants
SamplesHG03973
Known GenesPIP5K1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13505067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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