A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305937



Internal ID15152885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:113501291..113501292hg38UCSC Ensembl
Innerchr4:113501274..113501309hg38UCSC Ensembl
Outerchr4:113501273..113501310hg38UCSC Ensembl
chr4:114422447..114422448hg19UCSC Ensembl
Innerchr4:114422430..114422465hg19UCSC Ensembl
Outerchr4:114422429..114422466hg19UCSC Ensembl
chr4:114641896..114641897hg18UCSC Ensembl
Innerchr4:114641914..114641879hg18UCSC Ensembl
Outerchr4:114641878..114641915hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7775946, essv7816565, essv7793489, essv7810449, essv7794291, essv7774951, essv7814750, essv7780594, essv7823588, essv7803648, essv7802488, essv7822914, essv7798377, essv7824180, essv7830714, essv7834573, essv7823987
SamplesNA18947, NA12045, NA18545, NA18526, NA07357, NA18582, NA18964, NA18970, NA18638, NA18579, NA18948, NA18537, NA18945, NA18564, NA18552, NA18562, NA18577
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305937
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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