A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678534



Internal ID13318833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143547385..143547404hg38UCSC Ensembl
Innerchr2:143547381..143547408hg38UCSC Ensembl
Outerchr2:143547362..143547427hg38UCSC Ensembl
chr2:144304954..144304973hg19UCSC Ensembl
Innerchr2:144304950..144304977hg19UCSC Ensembl
Outerchr2:144304931..144304996hg19UCSC Ensembl
chr2:144021424..144021443hg18UCSC Ensembl
Innerchr2:144021447..144021420hg18UCSC Ensembl
Outerchr2:144021401..144021466hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397923
Supporting Variants
SamplesNA12878
Known GenesARHGAP15
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678534
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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