Variant Details

Variant: esv2722339

Internal ID

10305975

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Outer	chr1:210549107..210551525	hg38	UCSC Ensembl
Outer	chr1:210722451..210724869	hg19	UCSC Ensembl

Cytoband

1q32.2

Allele length

Assembly	Allele length
hg38	2419
hg19	2419

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6914123, essv6679709, essv6745071, essv6840117, essv6710737, essv6874837, essv6918085, essv6669214, essv6847279, essv6696876, essv6921904, essv6738971, essv6961801, essv6972642, essv6902692, essv6807512, essv6906266, essv6929233, essv6892469, essv6718308, essv6883379, essv6761956, essv6682966, essv6797618, essv6853479, essv6686292, essv6898745, essv6821341, essv6789317, essv6679335, essv6910213, essv6699774, essv6793464, essv6825145, essv6877788, essv6733609, essv6811932, essv6692942, essv6871846, essv6941971, essv6801753, essv6859379, essv6777086, essv6933471, essv6832736, essv6720087, essv6950715, essv6817987, essv6689403, essv6759189, essv6937834, essv6769689, essv6786043, essv6804541, essv6844019, essv6946644

Samples

SSM100, SSM036, SSM071, SSM027, SSM024, SSM075, SSM079, SSM065, SSM087, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM023, SSM092, SSM084, SSM021, SSM018, SSM061, SSM029, SSM062, SSM035, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM006, SSM085, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM080, SSM037, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM052, SSM098, SSM049

Known Genes

HHAT

Method

Sequencing

Analysis

Breakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads

Platform

Illumina HiSeq 2000

Comments

Reference

Wong_et_al_2012b

Pubmed ID

23290073

Accession Number(s)

esv2722339

Frequency

Sample Size	96
Observed Gain	0
Observed Loss	56
Observed Complex	0
Frequency	n/a